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Subject Areas on Research
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A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN.
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A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.
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A germ-line deletion of APOBEC3B does not contribute to subtype-specific childhood acute lymphoblastic leukemia etiology.
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A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.
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A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
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A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
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ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations.
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Abnormal gene expression profiles in unaffected parents of patients with hereditary-type retinoblastoma.
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Absence of PTEN germ-line mutations in men with a potential inherited predisposition to prostate cancer.
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Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations.
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Activating mutation in MET oncogene in familial colorectal cancer.
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Advances in inherited cancers: Introduction.
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An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions.
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Antibodies VRC01 and 10E8 neutralize HIV-1 with high breadth and potency even with Ig-framework regions substantially reverted to germline.
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Assessing matched normal and tumor pairs in next-generation sequencing studies.
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Association Between Germline Mutation in VSIG10L and Familial Barrett Neoplasia.
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Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
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Association between germline variants and somatic mutations in colorectal cancer.
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Association between p53 Arg72Pro polymorphism and colorectal cancer risk: a meta-analysis.
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Association of germline rare pathogenic mutations in guideline-recommended genes with prostate cancer progression: A meta-analysis.
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Authors' Reply.
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BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.
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BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.
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BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas.
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BRCA1 mutations in primary breast and ovarian carcinomas.
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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
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Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human.
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Brain Metastases in Pancreatic Ductal Adenocarcinoma: Assessment of Molecular Genotype-Phenotype Features-An Entity With an Increasing Incidence?
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Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
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Breast cancer risk models: a comprehensive overview of existing models, validation, and clinical applications.
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Broadening the View of Germline Mutations in Kidney Cancer.
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CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis.
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Carcinogenicity of a nephrotoxic metabolite of the "nongenotoxic" carcinogen hydroquinone.
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Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.
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Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1.
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Clinical outcome of isolated serous tubal intraepithelial carcinomas (STIC).
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Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.
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Common Germline Risk Variants Impact Somatic Alterations and Clinical Features across Cancers.
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Complete Durable Response From Carboplatin and Olaparib in a Heavily Pretreated Triple-Negative Metastatic Breast Cancer With Germline BRCA2 and "BRCAness" Mutations.
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Concurrent molecular alterations in tumors with germ line epidermal growth factor receptor T790M mutations.
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Considerations of germline testing in prostate cancer screening.
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Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.
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Deficiency of Mucosal-Associated Invariant T Cells in TCRJα18 Germline Knockout Mice.
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Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.
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Detecting colorectal cancer in stool with the use of multiple genetic targets.
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Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
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Effect of mutagen-induced cell lethality on the dose response of germline mutations.
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Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer.
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Evolutionary and biomedical insights from a marmoset diploid genome assembly.
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Frequency of germline and somatic BRCA1 mutations in ovarian cancer.
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Generation and analysis of partially haploid cells with Cre-mediated chromosome deletion in the lymphoid system.
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Generation of Dhx9-deficient clones in T-cell development with a mitotic recombination technique.
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Genetic factors influencing prostate cancer risk in Norwegian men.
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Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
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Genetically Informed Prostate Cancer Screening.
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Genetically predicted circulating protein biomarkers and ovarian cancer risk.
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Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
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Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial.
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Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancer risk in African-American men.
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Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.
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Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
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Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.
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Germline Genetic Testing: What the Breast Surgeon Needs to Know.
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Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank.
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Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.
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Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
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Germline PTEN mutations as a cause of early-onset endometrial cancer.
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Germline and somatic thyroid hormone receptor mutations in man.
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Germline cancer predisposition variants and pediatric glioma: a population-based study in California.
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Germline genetic landscape of pediatric central nervous system tumors.
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Germline genetic variants in men with prostate cancer and one or more additional cancers.
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Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.
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Germline mutations in HOXB13 and prostate-cancer risk.
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Germline mutations in PPFIBP2 are associated with lethal prostate cancer.
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Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
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Germline mutations in shelterin complex genes are associated with familial glioma.
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Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.
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Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.
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Germline signaling mediates the synergistically prolonged longevity produced by double mutations in daf-2 and rsks-1 in C. elegans.
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Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia.
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Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors.
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HOXB13 G84E-related familial prostate cancers: a clinical, histologic, and molecular survey.
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HOXB13 interaction with MEIS1 modifies proliferation and gene expression in prostate cancer.
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HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).
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Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.
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Hereditary nonpolyposis colorectal cancer: preventive management.
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Heritable resistance to tyrosine kinase inhibitors.
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Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer.
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Identification of the breast cancer susceptibility gene BRCA2.
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Immunoglobulin somatic hypermutation has clinical impact in DLBCL and potential implications for immune checkpoint blockade and neoantigen-based immunotherapies.
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Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
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In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline.
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Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families.
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Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.
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Increased risk for familial ovarian cancer among Jewish women: a population-based case-control study.
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
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Initial outcomes and insights from a novel high-risk prostate cancer screening clinic.
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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
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KLK3 germline mutation I179T complements DNA repair genes for predicting prostate cancer progression.
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Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome.
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Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.
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Malignant Mesothelioma and Its Non-Asbestos Causes.
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Management of high, moderate, and low penetrance ovarian cancer susceptibility mutations: an assessment of current risk reduction practices.
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Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers.
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Molecular Analysis of a Patient With Neurofibromatosis 2 (NF2) and Peritoneal Malignant Mesothelioma.
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Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
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Mortality reduction and cost-effectiveness of performing hysterectomy at the time of risk-reducing salpingo-oophorectomy for prophylaxis against serous/serous-like uterine cancers in BRCA1 mutation carriers.
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Mutation in the mismatch repair gene Msh6 causes cancer susceptibility.
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Mutation spectrum of 2-chloroethyl methanesulfonate in Drosophila melanogaster premeiotic germ cells.
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Mutational hotspots in the mitochondrial genome of lung cancer.
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Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
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Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
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Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort.
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Origins and prevalence of the American Founder Mutation of MSH2.
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Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2.
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Outcomes of primary surgical cytoreduction in patients with BRCA-associated high-grade serous ovarian carcinoma.
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PARP (Poly ADP-Ribose Polymerase) inhibitors for locally advanced or metastatic breast cancer.
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POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.
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PTEN loss in the continuum of common cancers, rare syndromes and mouse models.
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PTEN polymorphism (IVS4) is not associated with risk of prostate cancer.
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Pan-cancer analysis of whole genomes.
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Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.
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Pathogenic Germline Variants in 10,389 Adult Cancers.
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Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ.
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Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development.
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Practical Considerations and Challenges for Germline Genetic Testing in Patients With Prostate Cancer: Recommendations From the Germline Genetics Working Group of the PCCTC.
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Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.
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Prevalence of deleterious ATM germline mutations in gastric cancer patients.
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Prophylactic and risk-reducing bilateral salpingo-oophorectomy: recommendations based on risk of ovarian cancer.
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Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.
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Prostate Cancer Predisposition.
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Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer.
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Rare germline mutations in African American men diagnosed with early-onset prostate cancer.
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Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study.
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STAT3-enhancing germline mutations contribute to tumor-extrinsic immune evasion.
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Screening for familial and hereditary prostate cancer.
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Single nucleotide variation in the TP53 3' untranslated region in diffuse large B-cell lymphoma treated with rituximab-CHOP: a report from the International DLBCL Rituximab-CHOP Consortium Program.
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Single-port risk-reducing salpingo-oophorectomy with and without hysterectomy: surgical outcomes and learning curve analysis.
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Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions.
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Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation.
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Survival Benefit of Germline BRCA Mutation is Associated with Residual Disease in Ovarian Cancer.
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Synaptic, transcriptional and chromatin genes disrupted in autism.
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TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children.
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TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.
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Targeted composite value-based endpoints in platinum-sensitive recurrent ovarian cancer.
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Testing for the recurrent HOXB13 G84E germline mutation in men with clinical indications for prostate biopsy.
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The HOXB13 variant X285K is associated with clinical significance and early age at diagnosis in African American prostate cancer patients.
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The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates.
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The developmental basis for germline mosaicism in mouse and Drosophila melanogaster.
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The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
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The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.
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Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report.
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Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.
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Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers.
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Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome.
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Veliparib with temozolomide or carboplatin/paclitaxel versus placebo with carboplatin/paclitaxel in patients with BRCA1/2 locally recurrent/metastatic breast cancer: randomized phase II study.
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Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.
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[Cowden disease].
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Keywords of People